A loxP site flanked neomycin resistance gene cassette was inserted into intron 10 and cystine codon 462 (TGT) in exon 12 was changed to alanine (GCC) (p.C462A). This amino acid substitution abolishes E3 ubiquitin ligase activity without affecting DNA binding ability. The neo cassette was subsequently removed by Cre-mediated recombination. (J:126004)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1b-m2
Targeted
Nucleotide substitutions
--
1
5
5

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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